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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions. - Abstract - Europe PMC
bug converting cDNA to genomic position with Mutalyzer API v3 · Issue #43 · mutalyzer/mutalyzer · GitHub
bug converting cDNA to genomic position with Mutalyzer API v3 · Issue #43 · mutalyzer/mutalyzer · GitHub
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Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer - Dunnen - 2016 - Current Protocols in Human Genetics - Wiley Online Library
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